Clinical Exam of Craniosynostosis Guide
Clinical Exam of Craniosynostosis Guide A clinical examination for craniosynostosis is a crucial step in diagnosing this condition, which involves the premature fusion of one or more cranial sutures in infants. Early detection allows for prompt intervention, potentially preventing deformities and intracranial pressure issues. A thorough physical exam requires a systematic approach, focusing on cranial shape, sutural patency, and associated features.
The initial assessment begins with a detailed history, including prenatal, perinatal, and developmental milestones. Noting any family history of craniosynostosis or syndromic features helps guide the examination and further investigations. The clinical exam itself involves meticulous inspection and palpation of the skull.
Positioning the infant comfortably allows for optimal visualization. The examiner first observes the overall head shape, noting any asymmetries or deformities. Common types include scaphocephaly (elongated skull), trigonocephaly (forehead prominence), brachycephaly (shortened skull), or plagiocephaly (asymmetrical skull). These shapes often correlate with specific sutural closures—for example, sagittal suture fusion causes scaphocephaly, while coronal fusion results in brachycephaly.
Palpation of the sutures provides essential information about their patency. A fused suture typically feels ridged, less elastic, and may be palpable along its course. Conversely, open sutures allow for some mobility and softness, which is normal in infants. The examiner should gently palpate along all sutures—coronal, sagittal, lambdoid, and metopic—assessing their flexibility and integrity.
In addition to sutural assessment, the clinician evaluates for other craniofacial anomalies, such as hypertelorism, midface hypoplasia, or ear anomalies, which can suggest syndromic craniosynostosis. The scalp is examined for palpable ridges, bony prominences, or scars from previous interventions. The fontanelles are also inspected; their size, shape, and tension provide clues about intracranial pressure and suture activity.
Neurological assessment is vital, especially developmental milestones and muscle tone, to identify any deficits or delays. An abnormal head shape combined with signs of increased intracranial pressure—such as bulging fontanelles, sunset eyes, or vomiting—warrants urgent further imaging and intervention.
In some cases, imaging studies complement the physical exam. A cranial ultrasound may be useful in infants under six months, while a CT scan with 3D reconstruction offers definitive assessment of suture fusion and skull deformities. However, the clinical examination remains the cornerstone of initial diagnosis, guiding the need for imaging and specialist referral.
Overall, a systematic and gentle approach to the cranial and facial assessment, combined with a detailed history, enables clinicians to identify craniosynostosis accurately. Early recognition and multidisciplinary management—including neurosurgery, plastic surgery, and genetics—are key to optimal outcomes for affected infants.
